June 3, 2010
By Kevin Davies
BOSTON – One year after Illumina introduced its personal genome sequencing service, CEO Jay Flatley announced a significant price drop to below $20,000, and potentially half that if there is clinical relevance.
Illumina’s Individual Genome Sequencing service that Flatley debuted at the Consumer Genetics Show last year launched with a price of $48,000 for a whole genome sequence at 30-fold coverage. The service has to be ordered by a physician, and the results are also delivered back to the physician to discuss with the consumer.
With the introduction of the HiSeq instrument earlier this year, Illumina said the reagent cost of sequencing a full human genome had dropped to the $10,000 mark, which made the original IGS price tag of $48,000 appear a little steep by comparison. The new pricing that Flatley introduced today reflects the dramatic reduction in sequencing cost enabled by the HiSeq instrument.
The new cost of an individual genome sequence is $19,500. For groups of five people or more, the price drops to $14,500. Flatley also said that for a physician ordering a sequence for genuine clinical relevance, the price falls further to $9,500.
The only catch with the new pricing is that the sequence is no longer delivered on an iMac. “A little less elegant, a little less cool,” Flatley admitted.
Flatley disclosed that the IGS has sequenced at least 14 individuals to date. These include Flatley, venture capitalist Hermann Hauser, Henry “Skip” Gates and his father; Glenn Close; John West (former Solexa CEO) and his family of four; a cancer patient, two centenarians, and a severely ill child.
Goes to 11
Flatley briefly discussed analysis of his own genome sequence, illustrated with a live demo of his genome on an iPad app that had members of the audience drooling. Illumina shelved an earlier genome browser app for the iPhone after concluding the device didn’t have sufficient power to run the app.
Flatley said that detailed analysis of his genome, searching for known variants in mutation databases such as HBMD and PharmKB, revealed 16 candidate homozygous and 48 heterozygous ‘disease-causing’ variants potentially associated with known genetic diseases. The accuracy of some of these annotations left a lot to be desired -- much to Flatley’s relief. In some cases, the mutations were annotated as “… death in early infancy highly likely.”
After further review, Illumina eliminated all 16 of the homozygous mutations as disease-related, and 37 of the 48 heterozygous variants. That leaves Flatley as a carrier of 11 confirmed ‘disease-causing’ alleles, for six recessive disorders and five dominant disorders, most of which Flatley admitted he had never heard of. Further analysis is being conducted.
Flatley presented a live demo of his genome using a custom-built app for the iPad. (The app is not yet publicly available.) The app presented a host of features, including a list of the disorders linked to Flatley’s known variants; an “about me” tab to build a family tree and enter health information, which is linked to Microsoft’s Health Vault.
A “Favorites” tab provides access to favorite genes (Flatley gave the example of “athletic tendency”) extracting SNPs in real time. There was also a genome browser, providing the ability to drill down from the whole chromosome level to the nucleotide level; a pathways tab; and a sharing tool that could provide access to a physician.